88571-5
Fetal Monosomy X risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative
Active
Term Description
The ordinal risk interpretation (e.g. high risk/low risk or high probability/low probability) of the fetus having monosomy X aneuploidy based on dosage of chromosome specific cell-free DNA (cf DNA) in maternal plasma that contains both fetal and maternal DNA. Results may also be based on the mother's current age, IVF status (self, non-self, or not applicable), and gestational age. This code is based, but not limited in use to, the submitter's test, the Harmony Prenatal Test, a non-invasive prenatal test for screening of fetal aneuploidy.
Source: Regenstrief LOINC
Part Description
LP185775-6 Fetal monosomy X risk
Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [MedlinePlus Condition: turner-syndrome]
Source: Regenstrief LOINC, GHR: Turner syndrome
Fully-Specified Name
- Component
- Fetal monosomy X risk
- Property
- Imp
- Time
- Pt
- System
- Plas.cfDNA
- Scale
- Ord
- Method
- Dosage of chromosome specific cf DNA
Additional Names
- Long Common Name
- Fetal Monosomy X risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative
- Short Name
- Fet Ms X risk Plas.cfDNA Ql
- Display Name
- Monosomy X risk Dosage of chromosome-specific cfDNA Ql (cfDNA) [Interp]
- Consumer Name Alpha Get Info
- Fetal Monosomy X Risk
Example Answer List: LL4771-3
Source: Regenstrief LOINC| Answer | Code | Score | Answer ID |
|---|---|---|---|
| High probability | LA28478-8 | ||
| Low probability | LA28479-6 |
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.64
- Last Updated
- Version 2.66
- Change Reason
- Added "Fetal" to Component to clarify that the result is about the fetus.
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 73967-2 | Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Riesgo de monosomía X: |
| es-MX | Spanish (Mexico) | Riesgo de monosomía X fetal: |
| fr-FR | French (France) | Risque de monosomie X foetale: |
| it-IT | Italian (Italy) | Monosomia X, rischio: Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di monosomia X |
| zh-CN | Chinese (China) | 胎儿单体型 X 风险: Synonyms: 依次型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=88571-5
LOINC Copyright
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